Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Gpatch1'

41071

Institutional Source

Beutler Lab

Gene Symbol

Gpatch1

Ensembl Gene

ENSMUSG00000063808

Gene Name

G patch domain containing 1

Synonyms

Gpatc1, 1300003A17Rik

MMRRC Submission

038357-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34975969-35017865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34986652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 768 (S768L)

Ref Sequence

ENSEMBL: ENSMUSP00000117475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079693] [ENSMUST00000131143] [ENSMUST00000131213]

AlphaFold

Q9DBM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000079693
AA Change: S768L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: S768L

Domain	Start	End	E-Value	Type
Pfam:DUF1604	31	116	2.1e-39	PFAM
G_patch	150	191	4.72e-1	SMART
low complexity region	200	209	N/A	INTRINSIC
low complexity region	456	478	N/A	INTRINSIC
low complexity region	543	555	N/A	INTRINSIC
low complexity region	651	665	N/A	INTRINSIC
low complexity region	759	780	N/A	INTRINSIC
low complexity region	803	816	N/A	INTRINSIC
low complexity region	847	897	N/A	INTRINSIC
low complexity region	899	909	N/A	INTRINSIC
low complexity region	918	929	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131143

SMART Domains

Protein: ENSMUSP00000121711
Gene: ENSMUSG00000063808

Domain	Start	End	E-Value	Type
Pfam:DUF1604	29	98	2.2e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000131213
AA Change: S768L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: S768L

Domain	Start	End	E-Value	Type
Pfam:DUF1604	31	116	7.9e-40	PFAM
G_patch	150	191	4.72e-1	SMART
low complexity region	200	209	N/A	INTRINSIC
low complexity region	456	478	N/A	INTRINSIC
low complexity region	543	555	N/A	INTRINSIC
low complexity region	651	665	N/A	INTRINSIC
low complexity region	759	780	N/A	INTRINSIC
low complexity region	803	816	N/A	INTRINSIC
low complexity region	849	881	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206758

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

100% (107/107)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,119,177 (GRCm39)		noncoding transcript	Het
5530400C23Rik	A	T	6: 133,269,287 (GRCm39)		probably benign	Het
Aco2	T	C	15: 81,787,666 (GRCm39)		probably benign	Het
Arap3	A	T	18: 38,129,760 (GRCm39)	S134T	probably benign	Het
Arsa	T	A	15: 89,358,539 (GRCm39)	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,614,708 (GRCm39)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,221,372 (GRCm39)	I174N	probably damaging	Het
Bpifb9a	A	T	2: 154,108,761 (GRCm39)	N421Y	possibly damaging	Het
Btn2a2	T	A	13: 23,662,655 (GRCm39)	I432L	probably benign	Het
Ccdc150	A	G	1: 54,395,850 (GRCm39)	I778V	probably benign	Het
Cd200r2	G	A	16: 44,730,037 (GRCm39)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,786,964 (GRCm39)	L1421R	probably damaging	Het
Col24a1	G	A	3: 145,250,899 (GRCm39)	A1633T	probably damaging	Het
Col6a6	A	T	9: 105,579,412 (GRCm39)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,795,418 (GRCm39)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,214,976 (GRCm39)	N32K	probably benign	Het
Ctrb1	G	A	8: 112,413,269 (GRCm39)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,275,958 (GRCm39)	M208L	probably benign	Het
Dbt	A	G	3: 116,337,478 (GRCm39)	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm39)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,226,447 (GRCm39)	N361I	probably benign	Het
Dnah10	A	T	5: 124,840,140 (GRCm39)	D1315V	probably benign	Het
Dnah11	A	G	12: 118,090,621 (GRCm39)	F1080S	probably benign	Het
Dnm3	A	G	1: 162,234,930 (GRCm39)	V70A	probably damaging	Het
Dpy19l1	A	C	9: 24,325,705 (GRCm39)	M700R	possibly damaging	Het
Dpy19l2	G	A	9: 24,557,679 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,228,634 (GRCm39)	H2254N	possibly damaging	Het
Epm2aip1	A	G	9: 111,101,531 (GRCm39)	N168S	probably benign	Het
Fchsd2	A	G	7: 100,927,631 (GRCm39)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,788,398 (GRCm39)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,477,963 (GRCm39)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,679,404 (GRCm39)	I211F	probably damaging	Het
Gm15130	A	G	2: 110,969,284 (GRCm39)		probably benign	Het
Gm43302	T	A	5: 105,438,766 (GRCm39)	I41F	probably damaging	Het
Gm5698	C	T	1: 31,016,614 (GRCm39)	V146I	probably benign	Het
Grb14	T	G	2: 64,768,836 (GRCm39)		probably null	Het
Hnrnpd	T	C	5: 100,112,560 (GRCm39)	E222G	probably damaging	Het
Il4ra	C	T	7: 125,175,403 (GRCm39)	P537L	possibly damaging	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcnh4	T	C	11: 100,648,626 (GRCm39)	H26R	probably benign	Het
Kctd2	T	G	11: 115,320,343 (GRCm39)		probably benign	Het
Khdrbs3	T	A	15: 68,866,886 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,325,943 (GRCm39)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,969,902 (GRCm39)		probably benign	Het
Mmab	T	C	5: 114,574,526 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,266,011 (GRCm39)	S310P	probably benign	Het
Mrps21	T	C	3: 95,770,197 (GRCm39)	Y44C	probably null	Het
Myh10	T	A	11: 68,590,317 (GRCm39)	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,820,677 (GRCm39)	D840G	probably damaging	Het
Neb	T	A	2: 52,196,542 (GRCm39)	D553V	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm39)		probably benign	Het
Npr2	G	T	4: 43,632,329 (GRCm39)	V49L	probably benign	Het
Ntsr2	T	C	12: 16,704,120 (GRCm39)	I207T	probably benign	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Oas3	T	A	5: 120,896,940 (GRCm39)	I894F	probably damaging	Het
Oprd1	A	G	4: 131,841,299 (GRCm39)	F220L	probably benign	Het
Or11j4	T	A	14: 50,630,659 (GRCm39)	F149I	probably benign	Het
Or2aj4	T	A	16: 19,384,799 (GRCm39)	Y278F	probably damaging	Het
Or2r2	A	T	6: 42,463,869 (GRCm39)	M86K	probably benign	Het
Or8b57	T	C	9: 40,003,983 (GRCm39)	N93S	possibly damaging	Het
Pkd1l3	G	T	8: 110,347,103 (GRCm39)	G159C	unknown	Het
Plcb4	T	C	2: 135,803,689 (GRCm39)	S521P	probably benign	Het
Plcl1	A	T	1: 55,752,634 (GRCm39)	I993F	probably damaging	Het
Plcxd1	T	A	5: 110,249,368 (GRCm39)	V65E	probably damaging	Het
Plekha7	T	C	7: 115,756,743 (GRCm39)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,240,222 (GRCm39)	N993T	probably benign	Het
Rabepk	T	C	2: 34,685,318 (GRCm39)	D26G	possibly damaging	Het
Reck	A	G	4: 43,930,936 (GRCm39)	N646D	probably damaging	Het
Rfx2	A	T	17: 57,093,736 (GRCm39)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm39)	Q436*	probably null	Het
Ryr1	C	T	7: 28,704,992 (GRCm39)		probably benign	Het
Sema6b	A	G	17: 56,435,271 (GRCm39)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,909,833 (GRCm39)	M73I	probably benign	Het
Slc39a6	T	C	18: 24,732,326 (GRCm39)	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,391,875 (GRCm39)	V520F	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spink14	T	C	18: 44,161,830 (GRCm39)	V2A	probably benign	Het
Sptan1	C	A	2: 29,893,679 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,879,027 (GRCm39)		probably benign	Het
Tbc1d17	C	T	7: 44,493,495 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,394,590 (GRCm39)	L49*	probably null	Het
Tmco6	A	G	18: 36,875,160 (GRCm39)	T477A	probably benign	Het
Tmem208	C	T	8: 106,054,857 (GRCm39)	A53V	probably benign	Het
Tpp2	A	G	1: 44,020,908 (GRCm39)	T837A	possibly damaging	Het
Tulp4	A	T	17: 6,252,008 (GRCm39)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 103,798,145 (GRCm39)	W451R	probably damaging	Het
Usp53	G	T	3: 122,746,956 (GRCm39)	C363*	probably null	Het
Usp7	A	T	16: 8,509,282 (GRCm39)	H1017Q	probably benign	Het
Utp4	A	G	8: 107,649,530 (GRCm39)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,428,641 (GRCm39)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,463,409 (GRCm39)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 21,109,998 (GRCm39)	R306G	probably benign	Het
Vmn2r63	T	C	7: 42,576,514 (GRCm39)		probably benign	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het
Vmn2r85	T	C	10: 130,261,770 (GRCm39)	D189G	probably damaging	Het
Vps8	A	G	16: 21,296,273 (GRCm39)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,796,937 (GRCm39)	Y104*	probably null	Het
Wnk4	A	T	11: 101,156,261 (GRCm39)	D43V	probably damaging	Het
Xab2	A	T	8: 3,663,880 (GRCm39)	N346K	probably damaging	Het
Xirp2	T	C	2: 67,342,484 (GRCm39)	V1575A	possibly damaging	Het
Zdhhc12	C	T	2: 29,982,547 (GRCm39)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,043,064 (GRCm39)	S379P	probably benign	Het
Zfp458	G	A	13: 67,407,673 (GRCm39)	Q58*	probably null	Het
Zfp747	A	T	7: 126,973,772 (GRCm39)	S133T	probably benign	Het

Other mutations in Gpatch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Gpatch1	APN	7	34,976,238 (GRCm39)	critical splice acceptor site	probably null
IGL01143:Gpatch1	APN	7	35,000,997 (GRCm39)	splice site	probably benign
IGL01523:Gpatch1	APN	7	35,007,763 (GRCm39)	missense	probably null	1.00
IGL01862:Gpatch1	APN	7	34,994,703 (GRCm39)	missense	probably benign
IGL02349:Gpatch1	APN	7	35,006,680 (GRCm39)	missense	probably damaging	1.00
IGL02792:Gpatch1	APN	7	35,001,018 (GRCm39)	missense	probably damaging	0.96
IGL02926:Gpatch1	APN	7	35,007,694 (GRCm39)	missense	probably damaging	1.00
IGL03099:Gpatch1	APN	7	34,996,948 (GRCm39)	missense	possibly damaging	0.87
IGL03107:Gpatch1	APN	7	35,002,742 (GRCm39)	missense	probably benign	0.35
IGL03324:Gpatch1	APN	7	34,993,120 (GRCm39)	missense	possibly damaging	0.81
IGL03324:Gpatch1	APN	7	34,998,705 (GRCm39)	missense	probably damaging	0.96
R0066:Gpatch1	UTSW	7	34,986,652 (GRCm39)	missense	probably damaging	1.00
R0137:Gpatch1	UTSW	7	34,986,667 (GRCm39)	missense	probably damaging	1.00
R0347:Gpatch1	UTSW	7	34,997,056 (GRCm39)	missense	probably benign	0.16
R0382:Gpatch1	UTSW	7	35,001,080 (GRCm39)	missense	probably damaging	1.00
R0390:Gpatch1	UTSW	7	34,980,806 (GRCm39)	intron	probably benign
R0791:Gpatch1	UTSW	7	34,980,801 (GRCm39)	intron	probably benign
R1162:Gpatch1	UTSW	7	35,002,905 (GRCm39)	splice site	probably benign
R1374:Gpatch1	UTSW	7	34,991,187 (GRCm39)	missense	probably damaging	1.00
R1480:Gpatch1	UTSW	7	35,002,763 (GRCm39)	missense	probably damaging	1.00
R1556:Gpatch1	UTSW	7	34,994,776 (GRCm39)	missense	probably benign	0.00
R1682:Gpatch1	UTSW	7	35,002,812 (GRCm39)	missense	possibly damaging	0.80
R1887:Gpatch1	UTSW	7	35,002,813 (GRCm39)	missense	probably damaging	0.98
R1935:Gpatch1	UTSW	7	34,994,947 (GRCm39)	missense	probably damaging	1.00
R1936:Gpatch1	UTSW	7	34,994,947 (GRCm39)	missense	probably damaging	1.00
R2148:Gpatch1	UTSW	7	34,998,701 (GRCm39)	missense	probably benign	0.16
R2205:Gpatch1	UTSW	7	34,991,197 (GRCm39)	missense	probably damaging	1.00
R2215:Gpatch1	UTSW	7	34,993,252 (GRCm39)	missense	possibly damaging	0.48
R2274:Gpatch1	UTSW	7	34,988,103 (GRCm39)	missense	probably benign	0.00
R2275:Gpatch1	UTSW	7	34,988,103 (GRCm39)	missense	probably benign	0.00
R4126:Gpatch1	UTSW	7	34,993,079 (GRCm39)	critical splice donor site	probably null
R4705:Gpatch1	UTSW	7	34,998,730 (GRCm39)	splice site	probably null
R5227:Gpatch1	UTSW	7	35,008,776 (GRCm39)	missense	probably benign	0.09
R5567:Gpatch1	UTSW	7	35,006,640 (GRCm39)	missense	probably damaging	0.99
R5810:Gpatch1	UTSW	7	34,994,796 (GRCm39)	missense	probably benign	0.01
R5946:Gpatch1	UTSW	7	34,991,257 (GRCm39)	missense	probably damaging	0.99
R6263:Gpatch1	UTSW	7	35,002,848 (GRCm39)	missense	probably damaging	1.00
R6386:Gpatch1	UTSW	7	34,991,265 (GRCm39)	missense	probably damaging	1.00
R6569:Gpatch1	UTSW	7	34,991,163 (GRCm39)	missense	probably damaging	1.00
R6847:Gpatch1	UTSW	7	34,992,983 (GRCm39)	splice site	probably null
R7186:Gpatch1	UTSW	7	34,994,738 (GRCm39)	missense	possibly damaging	0.86
R7259:Gpatch1	UTSW	7	34,986,546 (GRCm39)	critical splice donor site	probably null
R7276:Gpatch1	UTSW	7	34,996,921 (GRCm39)	missense	probably benign	0.00
R7516:Gpatch1	UTSW	7	35,007,625 (GRCm39)	missense	probably benign	0.09
R7521:Gpatch1	UTSW	7	34,993,213 (GRCm39)	missense	probably damaging	1.00
R7561:Gpatch1	UTSW	7	35,008,800 (GRCm39)	missense	probably damaging	1.00
R7570:Gpatch1	UTSW	7	34,993,237 (GRCm39)	missense	probably damaging	1.00
R7588:Gpatch1	UTSW	7	34,991,173 (GRCm39)	missense	probably damaging	1.00
R7843:Gpatch1	UTSW	7	34,980,879 (GRCm39)	missense	unknown
R8353:Gpatch1	UTSW	7	34,976,704 (GRCm39)	intron	probably benign
R8430:Gpatch1	UTSW	7	35,007,634 (GRCm39)	missense	probably damaging	1.00
R8669:Gpatch1	UTSW	7	34,991,204 (GRCm39)	missense	probably damaging	1.00
X0020:Gpatch1	UTSW	7	34,994,806 (GRCm39)	missense	probably benign	0.09
Z1176:Gpatch1	UTSW	7	35,009,910 (GRCm39)	missense	probably damaging	1.00
Z1186:Gpatch1	UTSW	7	35,017,770 (GRCm39)	missense	probably benign
Z1186:Gpatch1	UTSW	7	34,997,079 (GRCm39)	missense	possibly damaging	0.91
Z1186:Gpatch1	UTSW	7	34,980,797 (GRCm39)	missense	unknown
Z1191:Gpatch1	UTSW	7	35,017,770 (GRCm39)	missense	probably benign
Z1191:Gpatch1	UTSW	7	34,997,079 (GRCm39)	missense	possibly damaging	0.91
Z1191:Gpatch1	UTSW	7	34,980,797 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTGCACCTTAAACACTGTCAGCTC -3'
(R):5'- TGGGGAATACCCCAGACCACTTTC -3'

Sequencing Primer
(F):5'- AAACACTGTCAGCTCTCCCTTAG -3'
(R):5'- gtgcttttaaccactcagctatc -3'

Posted On

2013-05-23